Canonical Allele Identifier: CA269843529
Gene: CAPN3 HGNC NCBI

Linked Data

dbSNP Id: rs36044856

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42401270del , CM000677.2:g.42401270del GRCh38
NC_000015.9:g.42693468del , CM000677.1:g.42693468del GRCh37
NC_000015.8:g.40480760del NCBI36
NG_008660.1:g.58168del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1211-371del ENSP00000183936.4:n.1211-371del
ENST00000357568.8:c.1355-371del ENSP00000350181.3:n.1355-371del
ENST00000397163.8:c.1355-371del MANE Select ENSP00000380349.3:n.1355-371del
ENST00000466369.5:n.1864-371del
ENST00000483208.5:n.1586-371del
ENST00000495723.1:n.1586-371del
ENST00000549793.5:n.1586-371del
ENST00000638141.2:n.1226-371del
ENST00000673705.1:c.309+1618del ENSP00000501021.1:n.309+1618del
ENST00000318023.11:c.1211-371del ENSP00000326281.8:n.1211-371del
ENST00000349748.7:c.1211-371del ENSP00000183936.4:n.1211-371del
ENST00000357568.7:c.1355-371del ENSP00000350181.3:n.1355-371del
ENST00000397163.7:c.1355-371del ENSP00000380349.3:n.1355-371del
NM_000070.2:c.1355-371del NP_000061.1:n.1355-371del
NM_024344.1:c.1355-371del NP_077320.1:n.1355-371del
NM_173087.1:c.1211-371del NP_775110.1:n.1211-371del
NM_000070.3:c.1355-371del MANE Select NP_000061.1:n.1355-371del
NM_024344.2:c.1355-371del NP_077320.1:n.1355-371del
NM_173087.2:c.1211-371del NP_775110.1:n.1211-371del